Artificial intelligence in prenatal diagnosis: Down syndrome risk assessment with the power of gradient boosting-based machine learning algorithms.

Objective: One of the most common chromosomal abnormalities seen during pregnancy is Down syndrome (Trisomy 21). To determine the risk of Down syndrome, first-trimester combined screening tests are essential. Using data from the first-trimester screening test, this study compares machine learning and deep learning models to forecast the risk of Down syndrome.

Materials and methods: Within the scope of the study, biochemical and biophysical data of 959 pregnant women who underwent first-trimester screening tests at Çukurova University Obstetrics and Gynecology Clinic between 2020-2024 were analyzed. After cleaning missing and erroneous data, various preprocessing and normalization techniques were applied to the final dataset consisting of 853 observations. Down syndrome risk prediction was performed using different machine learning models, and model performances were compared based on accuracy rates and other evaluation metrics.

Results: Experimental results show that the CatBoost model provides the highest success rate, with an accuracy rate of 95.31%. In addition, the XGBoost and LightGBM models exhibited high performance, with accuracy rates of 95.19% and 94.84%, respectively. The study also examines the effects of the class imbalance problem on model performance in detail and evaluates various strategies to reduce this imbalance.

Conclusion: The findings show that gradient boosting-based machine learning models have significant potential in Down syndrome risk prediction. This approach is expected to contribute to the reduction of unnecessary invasive tests and improve clinical decision-making processes by increasing the accuracy rate in prenatal screening processes. Future studies should aim to increase the generalization capacity of the model on larger data sets and to provide integration with different machine learning algorithms.